{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573060558",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NP_000081.2:p.Gly249Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007350",
          "hgvs": "NM_000090.4:c.746G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32247[alleleid]",
        "alleleId": 32247,
        "preferredName": "NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17208",
        "RCV": [
          "RCV000018748",
          "RCV001170886"
        ],
        "variationId": 17208
      }
    ]
  },
  "type": "amino-acid"
}